M85R (p.Met85Arg) variant of CYP19A1 (Aromatase)
M85R (p.Met85Arg) in CYP19A1 (Aromatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Aromatase deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
M85R (p.Met85Arg) variant details
- p.Met85Arg
- rs779820447
- ClinGen CA7560125
- ClinVar RCV001878741
- ExAC rs779820447
- Conflicting interpretations
- not provided; Aromatase deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.53
- CADD 23.40
- PolyPhen-2 0.27
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Aromatase deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available